Canonical Allele Identifier: CA343986965

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196716247G>A (hg19) ; chr1:g.196747117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196747117G>A , CM000663.2:g.196747117G>A	GRCh38
NC_000001.10:g.196716247G>A , CM000663.1:g.196716247G>A	GRCh37
NC_000001.9:g.194982870G>A	NCBI36
NG_007259.1:g.100107G>A , LRG_47:g.100107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470918.2:n.4528G>A
ENST00000695970.1:c.3326G>A	ENSP00000512297.1:p.Cys1109Tyr
ENST00000695971.1:c.3479G>A	ENSP00000512298.1:p.Cys1160Tyr
ENST00000695972.1:c.*577G>A	ENSP00000512299.1:n.*577G>A
ENST00000695973.1:c.*1864G>A	ENSP00000512300.1:n.*1864G>A
ENST00000695974.1:c.3323G>A	ENSP00000512301.1:p.Cys1108Tyr
ENST00000695975.1:c.*1627G>A	ENSP00000512302.1:n.*1627G>A
ENST00000695976.1:c.3311G>A	ENSP00000512303.1:p.Cys1104Tyr
ENST00000695981.1:c.3500G>A	ENSP00000512306.1:p.Cys1167Tyr
ENST00000695984.1:c.1508G>A	ENSP00000512309.1:p.Cys503Tyr
ENST00000695986.1:c.*3151G>A	ENSP00000512311.1:n.*3151G>A
ENST00000695990.1:n.534G>A
ENST00000696026.1:c.*1782G>A	ENSP00000512335.1:n.*1782G>A
ENST00000696027.1:c.3494G>A	ENSP00000512336.1:p.Cys1165Tyr
ENST00000696028.1:c.3428G>A	ENSP00000512337.1:p.Cys1143Tyr
ENST00000696029.1:c.3494G>A	ENSP00000512338.1:p.Cys1165Tyr
ENST00000696031.1:c.*3018G>A	ENSP00000512340.1:n.*3018G>A
ENST00000696032.1:c.3500G>A	ENSP00000512341.1:p.Cys1167Tyr
ENST00000696033.1:c.1160-32680G>A	ENSP00000512342.1:n.1160-32680G>A
ENST00000367429.9:c.3500G>A MANE Select	ENSP00000356399.4:p.Cys1167Tyr
ENST00000367429.8:c.3500G>A	ENSP00000356399.4:p.Cys1167Tyr
ENST00000466229.5:n.6598G>A
NM_000186.3:c.3500G>A , LRG_47t1:c.3500G>A	NP_000177.2:p.Cys1167Tyr
XR_001737134.2:n.3686G>A
NM_000186.4:c.3500G>A MANE Select	NP_000177.2:p.Cys1167Tyr